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R. Qamar · SciRah

Researcher profile · Semantic Scholar

R. Qamar

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R. Qamar — researcher profile on SciRah

h-index: 36
Works: 176
Citations: 4,797

Most-cited papers

Evolution of codon usage in Zika virus genomes is host and vector specific
A. Butt, Izza Nasrullah, R. Qamar, Y. Tong
2016Emerging Microbes and Infections180 citations Open access
Semantic Scholar
Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma
C. Khor, Do Tan, Hong-yan Jia, Masakazu Nakano +225 more
2016Nature Genetics170 citations Open access
Semantic Scholar
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families
R. Harripaul, N. Vasli, A. Mikhailov, M. Rafiq +28 more
2017Molecular Psychiatry162 citations Open access
Semantic Scholar
ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease
R. Sangermano, Mubeen Khan, S. S. Cornelis, Valerie Richelle +8 more
2018Genome Research160 citations Open access
Semantic Scholar
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci
T. Aung, M. Ozaki, Mei-Chin Lee, U. Schlötzer-Schrehardt +285 more
2017Nature Genetics144 citations Open access
Semantic Scholar
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark
G. Astuti, Mette Bertelsen, M. Preising, M. Ajmal +6 more
2015European Journal of Human Genetics86 citations Open access
Semantic Scholar
Transethnic analysis of psoriasis susceptibility in South Asians and Europeans enhances fine-mapping in the MHC and genomewide
P. Stuart, L. Tsoi, R. Nair, M. Ghosh +19 more
2021HGG advances62 citations Open access
Semantic Scholar
A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma
M. Ajmal, M. A. Khan, K. Neveling, Y. Khan +9 more
2014Journal of Medical Genetics58 citations
Semantic Scholar
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.
Muhammad Ansar, E. Ranza, Madhur Shetty, S. A. Paracha +19 more
2019Human Molecular Genetics52 citations Open access
Semantic Scholar
Synthesis and characterization of biodiesel from Aamla oil: A promoting non-edible oil source for bioenergy industry
Kifayat Ullah, Mushtaq Ahmad, F. Qureshi, R. Qamar +3 more
201545 citations
Semantic Scholar
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
G. Mirzaa, Jessica X. Chong, A. Piton, B. Popp +72 more
2019Genetics in Medicine41 citations Open access
Semantic Scholar
IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.
R. V. van Huet, R. W. Collin, A. Siemiątkowska, C. Klaver +10 more
2014Investigative Ophthalmology and Visual Science40 citations Open access
Semantic Scholar
Homozygosity Mapping and Targeted Sanger Sequencing Reveal Genetic Defects Underlying Inherited Retinal Disease in Families from Pakistan
Maleeha Maria, M. Ajmal, M. Azam, N. Waheed +17 more
2015PLoS ONE39 citations Open access
Semantic Scholar
Association of known common genetic variants with primary open angle, primary angle closure, and pseudoexfoliation glaucoma in Pakistani cohorts
S. Micheal, Humaira Ayub, M. A. Khan, Bjorn Bakker +6 more
2014Molecular Vision39 citations
Semantic Scholar
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa
Lin Li, Xiao-Dong Jiao, Ilaria D’Atri, Fumihito Ono +37 more
2018PLoS Genetics37 citations Open access
Semantic Scholar
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum
Maleeha Maria, Ideke J. C. Lamers, M. Schmidts, M. Ajmal +15 more
2016Scientific Reports37 citations Open access
Semantic Scholar
Implementation of public health genomics in Pakistan
M. Riaz, J. Tiller, M. Ajmal, M. Azam +2 more
2019European Journal of Human Genetics34 citations Open access
Semantic Scholar
Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open‐angle glaucoma
S. Micheal, Humaira Ayub, S. Zafar, Bjorn Bakker +6 more
2015Clinical and Experimental Ophthalmology34 citations
Semantic Scholar
Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells
C. Z. Seco, A. Giese, Sobia Shafique, M. Schraders +16 more
2015European Journal of Human Genetics33 citations Open access
Semantic Scholar
Role of ACE and PAI-1 Polymorphisms in the Development and Progression of Diabetic Retinopathy
Saba Saleem, Aisha Azam, Sundus Ijaz Maqsood, Irfan Muslim +9 more
2015PLoS ONE33 citations Open access
Semantic Scholar
Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld–Rieger syndrome
S. Micheal, S. Siddiqui, S. Zafar, H. Venselaar +3 more
2015Neurogenetics31 citations Open access
Semantic Scholar
Association of IGF1 and VEGFA polymorphisms with diabetic retinopathy in Pakistani population
Netasha Khan, A. Paterson, D. Roshandel, A. Raza +4 more
2019Acta Diabetologica30 citations
Semantic Scholar
Clinical Utility of a Coronary Heart Disease Risk Prediction Gene Score in UK Healthy Middle Aged Men and in the Pakistani Population
Katherine E. Beaney, J. Cooper, Saleem Ullah Shahid, W. Ahmed +4 more
2015PLoS ONE30 citations Open access
Semantic Scholar
Exome Sequencing Identifies Three Novel Candidate Genes Implicated in Intellectual Disability
Z. Agha, Z. Iqbal, M. Azam, Humaira Ayub +8 more
2014PLoS ONE28 citations Open access
Semantic Scholar
TNF-α Genetic Predisposition and Higher Expression of Inflammatory Pathway Components in Keratoconus.
Muneeza Arbab, S. Tahir, M. K. Niazi, M. Ishaq +7 more
2017Investigative Ophthalmology and Visual Science27 citations Open access
Semantic Scholar
The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome
D. Berner, U. Hoja, M. Zenkel, James J. Ross +27 more
2019Human Molecular Genetics25 citations Open access
Semantic Scholar
A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
Celia Zazo Seco, A. Castells-Nobau, Seol-hee Joo, M. Schraders +26 more
2017Disease Models & Mechanisms25 citations Open access
Semantic Scholar
Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7
K. Van Schil, M. Karlstetter, A. Aslanidis, Katharina Dannhausen +6 more
2016Scientific Reports24 citations Open access
Semantic Scholar
The Molecular Basis of Retinal Dystrophies in Pakistan
M. A. Khan, M. Azam, M. Ajmal, R. W. Collin +3 more
2014Genes24 citations Open access
Semantic Scholar
Identification of Mutations in the PRDM5 Gene in Brittle Cornea Syndrome
S. Micheal, M. A. Khan, F. Islam, Farah Akhtar +4 more
2016Cornea22 citations
Semantic Scholar
Variants in the PRPF8 Gene are Associated with Glaucoma
S. Micheal, B. F. Hogewind, M. A. Khan, S. Siddiqui +5 more
2017Molecular Neurobiology20 citations Open access
Semantic Scholar
CBS mutations and MTFHR SNPs causative of hyperhomocysteinemia in Pakistani children
S. Ibrahim, Saadia Maqbool, M. Azam, M. Iqbal +1 more
2018Molecular Biology Reports18 citations
Semantic Scholar
The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families
V. Keser, Ayesha Khan, S. Siddiqui, I. Lopez +6 more
2017Investigative Ophthalmology and Visual Science18 citations Open access
Semantic Scholar
ARG1 Gene Polymorphisms and Their Association in Individuals with Essential Hypertension: A Case–Control Study
Syed Fawad Ali Shah, Tahir Iqbal, R. Qamar, M. Rafiq +1 more
2018DNA and Cell Biology17 citations
Semantic Scholar
Molecular Mechanisms of Complement System Proteins and Matrix Metalloproteinases in the Pathogenesis of Age-Related Macular Degeneration.
N. Mansoor, F. Wahid, M. Azam, Khadim Shah +3 more
2019Current molecular medicine15 citations
Semantic Scholar
Variants in the ASB10 Gene Are Associated with Primary Open Angle Glaucoma
S. Micheal, Humaira Ayub, F. Islam, S. Siddiqui +5 more
2015PLoS ONE15 citations Open access
Semantic Scholar
A Single SNP Surrogate for Genotyping HLA-C*06:02 in Diverse Populations
P. Stuart, T. Tejasvi, P. A. Shaiq, P. Kullavanijaya +7 more
2014Journal of Investigative Dermatology15 citations Open access
Semantic Scholar
MTHFR polymorphisms as risk for male infertility in Pakistan and its comparison with socioeconomic status in the world.
N. Ullah, Atika Mansoor, S. Micheal, B. Mirza +3 more
2019Personalized Medicine14 citations
Semantic Scholar
Zika virus in Pakistan: the tip of the iceberg?
A. Butt, Shafiqa Siddique, Lauren M. Gardner, S. Sarkar +2 more
2016Lancet Global Health13 citations Open access
Semantic Scholar
Identification of novel potential genetic predictors of urothelial bladder carcinoma susceptibility in Pakistani population
Syeda Hafiza Benish Ali, K. Bangash, A. Rauf, Muhammad Younis +8 more
2017Familial Cancer12 citations
Semantic Scholar
Decreased serum PON1 arylesterase activity in familial hypercholesterolemia patients with a mutated LDLR gene
M. Idrees, A. Siddiq, M. Ajmal, M. Akram +4 more
2018Genetics and Molecular Biology11 citations Open access
Semantic Scholar
Electrochemically driven optical and SERS immunosensor for the detection of a therapeutic cardiac drug
Madeeha Chaudhry, Dong-Kwon Lim, J. Kang, Z. Yaqoob +5 more
2022RSC Advances10 citations Open access
Semantic Scholar
176 Transethnic analysis of psoriasis susceptibility in South Asians and Europeans enhances fine-mapping in the MHC and genomewide
P. Stuart, L. Tsoi, R. Nair, M. Ghosh +8 more
20219 citations Open access
Semantic Scholar
Association of rs10490924 in ARMS2/HTRA1 with age‐related macular degeneration in the Pakistani population
Humaira Ayub, Sobia Shafique, Aisha Azam, Irfan Muslim +10 more
2019Annals of Human Genetics8 citations
Semantic Scholar
A 3′ untranslated region polymorphism rs2304277 in the DNA repair pathway gene OGG1 is a novel risk modulator for urothelial bladder carcinoma
Tayyaba Ahmed, Saira Nawaz, R. Noreen, K. Bangash +10 more
2018Annals of Human Genetics8 citations Open access
Semantic Scholar
Correction: Clinical Utility of a Coronary Heart Disease Risk Prediction Gene Score in UK Healthy Middle Aged Men and in the Pakistani Population
Katherine E. Beaney, J. Cooper, Saleem Ullah Shahid, W. Ahmed +4 more
2015PLoS ONE8 citations Open access
Semantic Scholar
Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds
Mehran Kausar, N. Ain, Farzana Hayat, Hunain Fatima +16 more
2022BMC Musculoskeletal Disorders7 citations Open access
Semantic Scholar
A 2-year retrospective study of viral and host-associated risk factors in Pakistani hepatocellular carcinoma patients.
Z. Abideen, Shafiqa Siddique, Izza Nasrullah, J. Khan +4 more
2019European Journal of Gastroenterology and Hepathology7 citations
Semantic Scholar
The effect of varied pH on the luminescence characteristics of antibody–mercaptoacetic acid conjugated ZnS nanowires
Madeeha Chaudhry, M. A. Rehman, A. Gul, R. Qamar +1 more
20177 citations
Semantic Scholar
Inborn errors of metabolism: Historical perspectives to contemporary management.
Sumreena Mansoor, R. Qamar, M. Azam
2024Clinica chimica acta; international journal of clinical chemistry6 citations
Semantic Scholar

Frequent co-authors

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M. Azam×18
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M. Azam — researcher profile on SciRah
M. A. Khan×13
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M. A. Khan — researcher profile on SciRah
A. den Hollander×12
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A. den Hollander — researcher profile on SciRah
Humaira Ayub×10
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Humaira Ayub — researcher profile on SciRah

×10

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S. Micheal — researcher profile on SciRah

Farah Akhtar×9

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Farah Akhtar — researcher profile on SciRah

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F. Cremers — researcher profile on SciRah

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M. Ajmal — researcher profile on SciRah

R. W. Collin×6

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R. W. Collin — researcher profile on SciRah

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C. Khor — researcher profile on SciRah

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S. Siddiqui — researcher profile on SciRah

Syeda Hafiza Benish Ali×5

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Syeda Hafiza Benish Ali — researcher profile on SciRah